Non-syndromic familial congenital anorectal malformations
Gene: FAM58AComment when marking as ready: Marked as ready, but noted that only Build 38 Ensembl gene is listed.Created: 1 Nov 2018, 12:38 p.m.
Comment on mode of inheritance: All reported cases have been in females.Created: 8 Oct 2018, 10:59 p.m.
Comment on list classification: Rated green as 3 cases/families with point mutations in this gene, leading to potentially deleterious effects have been reported.Created: 8 Oct 2018, 10:36 p.m.
FAM58A (CCNQ) is associated with STAR syndrome in OMIM and Gene2Phenotype (confirmed).
Unger et al. (2008)(PMID: 18297069) found 2 females with anogenital and renal malformations, dysmorphic facial features, normal intelligence, and syndactyly of toes with genomic deletions removing regions of the FAM58A gene. In another 4 affected females, the authors found 3 different heterozygous point mutations. Two of these patients, a mother-daughter pair, had been reported by Green et al. (1996) (PMID: 8818947). All 6 patients showed anal atresia.
Lefroy et al. (2017)(PMID: 28225384) identified a heterozygous deletion of the FAM58A gene in a 19-year-old woman with STAR syndrome. Her mother, who had only bilateral 4-5 toe syndactyly, was found to have approximately 50% mosaicism for the same deletion.
Other cases are reported in PMIDs: 28322501;29088509;26225595.
To date, all cases have been in females.Created: 8 Oct 2018, 10:29 p.m.
Comment on list classification: Rated gene Amber as is on expert list.Created: 19 Sep 2018, 4:21 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)Created: 19 Sep 2018, 4:21 p.m.
Current gene name in HGNC is CCNQ.Created: 19 Sep 2018, 4:10 p.m.
Eleanor Williams: Current gene name in HGNC is C
Gene: fam58a has been classified as Green List (High Evidence).
Mode of inheritance for gene: FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM58A were set to 18297069; 8818947; 28225384
Gene: fam58a has been classified as Green List (High Evidence).
Phenotypes for gene: FAM58A were changed from anorectal malformation to anorectal malformation; STAR syndrome 300707
Publications for gene: FAM58A were set to
Gene: fam58a has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: FAM58A.
gene: FAM58A was added gene: FAM58A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: FAM58A was set to Phenotypes for gene: FAM58A were set to anorectal malformation